Inclusion diseases, also referred to as storage diseases or lysosomal storage disorders (LSDs), are a group of rare genetic disorders characterized by an abnormal accumulation of substances inside the lysosomes of cells. Lysosomes are important cellular compartments responsible for breaking down various substances, including proteins, carbohydrates, and lipids, through the action of specific enzymes. In inclusion diseases, a deficiency or malfunction of one of these enzymes hinders the lysosomes' ability to break down certain substances, resulting in their accumulation.
The build-up of these substances, known as storage materials or inclusion bodies, causes damage to cells, tissues, and organs throughout the body. This build-up can lead to a variety of symptoms, including developmental delays, intellectual disability, organ dysfunction, skeletal abnormalities, vision and hearing impairment, and in severe cases, premature death.
There are over 50 different types of inclusion diseases, with varying degrees of severity and affected organs. Some examples include Gaucher disease, Tay-Sachs disease, Pompe disease, and Niemann-Pick disease. The inheritance pattern of inclusion diseases can be autosomal recessive, autosomal dominant, or X-linked recessive, meaning that an affected individual typically inherits the condition from both parents or from a single affected parent.
Although most inclusion diseases are incurable, advancements in genetic research and understanding have led to the development of some treatment options, including enzyme replacement therapy, substrate reduction therapy, and gene therapy. Early diagnosis, through newborn screening or genetic testing, is crucial in managing and treating these disorders, as it allows for early intervention and support.
